Familial rhabdomyosarcoma
Gene: BUB1BEnsemblGeneIds (GRCh38): ENSG00000156970
EnsemblGeneIds (GRCh37): ENSG00000156970
OMIM: 602860, Gene2Phenotype
BUB1B is in 13 panels
1 review
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
-
- Expert Review Green
- Literature
- Phenotypes
-
- Mosaic variegated aneuploidy syndrome 1, 257300
- OMIM
- 602860
- Clinvar variants
- Variants in BUB1B
- Penetrance
- None
- Panels with this gene
-
- Sarcoma susceptibility
- Childhood solid tumours
- Sarcoma cancer susceptibility
- Primary ovarian insufficiency
- Clefting
- Severe microcephaly
- Intellectual disability
- Fetal anomalies
- DDG2P
- Hydrocephalus
- Familial rhabdomyosarcoma
- Childhood solid tumours cancer susceptibility
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)21st December 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation by Helen Brittain.
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for BUB1B were set to Mosaic variegated aneuploidy syndrome 1, 257300
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for BUB1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)BUB1B was added to Familial rhabdomyosarcoma panel. Sources: Literature
Created
Louise Daugherty (Genomics England Curator)BUB1B was created by Louise Daugherty