Clefting
Gene: BUB1B

BUB1B (BUB1 mitotic checkpoint serine/threonine kinase B)
EnsemblGeneIds (GRCh38): ENSG00000156970
EnsemblGeneIds (GRCh37): ENSG00000156970
OMIM: 602860, Gene2Phenotype
BUB1B is in 13 panels

1 review

Ellen McDonagh (Genomics England Curator)

I don't know

Is a confirmed DD gene for MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, and has clefting as a phenotype. Cleft palate is within the OMIM description for Mosaic variegated aneuploidy syndrome 1. PMID 15475955 - clefting not mentioned in clinical fatures of 8 families with BUB1B mutations and MVA. PMID 9916837 - clefting not mentioned in reported patient or cases compared to this case. PMID 21190457 - clefting not mentioned. PMID 16411201 - one of 8 patients with premature chromatid separation (PCS syndrome) who had monoallelic BUB1B mutations had a cleft palate. Clefting not mentioned in PMID 11169558.
Created: 31 May 2017, 1:52 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Created: 31 May 2017, 1:52 p.m.

Panel version: 0.307

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber

Phenotypes

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
MVA1

OMIM

602860

Clinvar variants

Variants in BUB1B

Penetrance

Complete

Panels with this gene

History Filter Activity

31 May 2017, Gel status: 2

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

31 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

BUB1B was created by ellenmcdonagh