Childhood solid tumours 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
1 review
Zornitza Stark (Australian Genomics)
Syndrome with increased tumour risk: Wilms tumor, nephroblastoma, rhabdomyosarcoma, leukaemia.Created: 1 Aug 2020, 7:14 a.m. | Last Modified: 1 Aug 2020, 7:14 a.m.
Panel Version: 1.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mosaic variegated aneuploidy syndrome 1, MIM# 257300
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- 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
- Intellectual disability
- Primary ovarian insufficiency
- Fetal anomalies
- Severe microcephaly
- Clefting
- Bilateral congenital or childhood onset cataracts
- Familial rhabdomyosarcoma
- Childhood solid tumours cancer susceptibility
History Filter Activity
10 Aug 2020, Gel status: 3
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: bub1b has been classified as Green List (High Evidence).
26 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 Childhood solid tumours pertinent cancer 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