Cancer Predisposition_Paediatric
Gene: BUB1BEnsemblGeneIds (GRCh38): ENSG00000156970
EnsemblGeneIds (GRCh37): ENSG00000156970
OMIM: 602860, Gene2Phenotype
BUB1B is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Syndrome with increased tumour risk: Wilms tumor, nephroblastoma, rhabdomyosarcoma, leukaemia.
Sources: Expert listCreated: 1 Aug 2020, 7:15 a.m.
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
- Expert list
- Phenotypes
-
- Mosaic variegated aneuploidy syndrome 1, MIM# 257300
- OMIM
- 602860
- Clinvar variants
- Variants in BUB1B
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Clefting disorders
- Prepair 1000+
- Microcephaly
- Mendeliome
- Sarcoma soft tissue
- Intellectual disability syndromic and non-syndromic
- Callosome
- Wilms Tumour
- Cancer Predisposition_Paediatric
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Hydrocephalus_Ventriculomegaly
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bub1b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bub1b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: BUB1B was added gene: BUB1B was added to Cancer Predisposition_Paediatric. Sources: Expert list Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BUB1B were set to 31081598; 31053147 Phenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1, MIM# 257300 Review for gene: BUB1B was set to GREEN