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Intellectual disability syndromic and non-syndromic

Gene: BUB1B

Green List (high evidence)

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

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

History Filter Activity

12 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bub1b has been classified as Green List (High Evidence).

12 Dec 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BUB1B were changed from to Mosaic variegated aneuploidy syndrome 1, MIM# 257300

12 Dec 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BUB1B were set to

12 Dec 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BUB1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BUB1B was added gene: BUB1B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: BUB1B was set to Unknown