Sarcoma cancer susceptibility
Gene: BUB1B
BUB1B (BUB1 mitotic checkpoint serine/threonine kinase B)
EnsemblGeneIds (GRCh38): ENSG00000156970
EnsemblGeneIds (GRCh37): ENSG00000156970
OMIM: 602860, Gene2Phenotype
BUB1B is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000156970
EnsemblGeneIds (GRCh37): ENSG00000156970
OMIM: 602860, Gene2Phenotype
BUB1B is in 13 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
This gene was added to this panel after feedback from Laura King (Great Ormond Street Hospital, London) to include genes from the Familial rhabdomyosarcoma gene panel (code 290 version 1.4) and the Inherited predisposition to GIST gene panel (code 523, version 0.20) for patients that will be recruited under Sarcoma in the cancer programme. The highest rating for this gene from these two panels was Green, as captured here in this review.Created: 13 Mar 2019, 2:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mosaic variegated aneuploidy syndrome 1, 257300
Helen Brittain (Genomics England Curator)
Causation is clear and rhabdomyosarcomas are commonly seen. Would expect it to present in a syndromic manner prior to this however. Reviewed with Clare Turnbull and Gareth Evans for consensus.Created: 21 Dec 2017, 10:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mosaic variegated aneuploidy syndrome 1, 257300
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Literature
- Expert Review Amber
- Phenotypes
-
- Mosaic variegated aneuploidy syndrome 1, 257300
- OMIM
- 602860
- Clinvar variants
- Variants in BUB1B
- Penetrance
- None
- Panels with this gene
-
- Hydrocephalus
- Sarcoma susceptibility
- Childhood solid tumours
- DDG2P
- Sarcoma cancer susceptibility
- Primary ovarian insufficiency
- Fetal anomalies
- Clefting
- Severe microcephaly
- Bilateral congenital or childhood onset cataracts
- Familial rhabdomyosarcoma
- Childhood solid tumours cancer susceptibility
- Intellectual disability
History Filter Activity
13 Mar 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: BUB1B was added gene: BUB1B was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1, 257300