Sarcoma susceptibility

Gene: BUB1B

Amber List (moderate evidence)

BUB1B (BUB1 mitotic checkpoint serine/threonine kinase B)
EnsemblGeneIds (GRCh38): ENSG00000156970
EnsemblGeneIds (GRCh37): ENSG00000156970
OMIM: 602860, Gene2Phenotype
BUB1B is in 11 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

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)

Green List (high evidence)

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
  • NHS GMS
  • Expert Review Amber
  • Literature
  • Expert Review Amber
Phenotypes
  • Mosaic variegated aneuploidy syndrome 1, 257300
OMIM
602860
Clinvar variants
Variants in BUB1B
Penetrance
None
Panels with this gene

History Filter Activity

1 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to BUB1B.

23 Jul 2019, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: BUB1B was added gene: BUB1B was added to Sarcoma susceptibility. Sources: Expert Review Amber 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