Childhood solid tumours
Gene: BUB1B
BUB1B (BUB1 mitotic checkpoint serine/threonine kinase B)
EnsemblGeneIds (GRCh38): ENSG00000156970
EnsemblGeneIds (GRCh37): ENSG00000156970
OMIM: 602860, Gene2Phenotype
BUB1B is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000156970
EnsemblGeneIds (GRCh37): ENSG00000156970
OMIM: 602860, Gene2Phenotype
BUB1B is in 15 panels
3 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green.Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Lara Hawkes (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
257300
Richard Scott (Genomics England Curator)
Comment on list classification: Associated with multiple childhood tumour typesCreated: 7 Mar 2016, 11:39 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert List
- Expert Review Green
- Phenotypes
-
- Mosaic variegated aneuploidy syndrome 1 257300
- 257300
- OMIM
- 602860
- Clinvar variants
- Variants in BUB1B
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Sarcoma cancer susceptibility
- Primary ovarian insufficiency
- Clefting
- Severe microcephaly
- Hydrocephalus
- Familial rhabdomyosarcoma
- Childhood solid tumours
- Sarcoma susceptibility
- Embryonal tumour of possible germline origin
- DDG2P
- Sarcoma of possible germline origin
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Bilateral congenital or childhood onset cataracts
History Filter Activity
2 Aug 2019, Gel status: 3
Added New Source, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to BUB1B. Added phenotypes Mosaic variegated aneuploidy syndrome 1 257300 for gene: BUB1B
30 Jan 2019, Gel status: 3
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to BUB1B. Rating Changed from Green List (high evidence) to Green List (high evidence)
7 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
7 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
7 Mar 2016, Gel status: 0
Added New Source
Richard Scott (North Thames GMC/UCL)BUB1B was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Expert list
7 Mar 2016, Gel status: 0
Created
Richard Scott (North Thames GMC/UCL)BUB1B was created by Reviewer_03