This Panel is marked as Retired
Multiple Tumours
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
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Mosaic Variegated Aneuploidy Syndrome Wilms Tumor
- Rhabdomyosarcoma
- Myeloid hematological malignancy
- Paediatric congenital malformation-dysmorphism-tumour syndromes
- OMIM
- 602860
- Clinvar variants
- Variants in BUB1B
- Penetrance
- Complete
- Panels with this gene
-
- Sarcoma susceptibility
- Bilateral congenital or childhood onset cataracts
- Sarcoma cancer susceptibility
- Intellectual disability
- Severe microcephaly
- Primary ovarian insufficiency
- Clefting
- DDG2P
- Hydrocephalus
- Fetal anomalies
- Familial rhabdomyosarcoma
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
History Filter Activity
9 Mar 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)BUB1B was added to Multiple Tumourspanel. Source: Expert Review Green
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)BUB1B was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)BUB1B was created by ellenmcdonagh