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  2. Sarcoma soft tissue
  3. BUB1B
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Sarcoma soft tissue

Gene: BUB1B

Green List (high evidence)
BUB1B (BUB1 mitotic checkpoint serine/threonine kinase B)
EnsemblGeneIds (GRCh38): ENSG00000156970
EnsemblGeneIds (GRCh37): ENSG00000156970
OMIM: 602860, Gene2Phenotype
BUB1B is in 14 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. Soft-tissue sarcomas reported in condition.
Sources: Expert list, Expert Review
Created: 25 Sep 2024, 10:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Mosaic variegated aneuploidy syndrome 1, MONDO:0009759; Mosaic variegated aneuploidy syndrome 1, MIM#257300

Created: 25 Sep 2024, 10:09 p.m.

Panel version: 0.31

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Soft tissue sarcoma, MONDO:0018078
  • Sarcoma, MONDO:0005089
  • Mosaic variegated aneuploidy syndrome 1, MONDO:0009759
  • Mosaic variegated aneuploidy syndrome 1, MIM#257300
OMIM
602860
Clinvar variants
Variants in BUB1B
Penetrance
None
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bub1b has been classified as Green List (High Evidence).

25 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: bub1b has been classified as Green List (High Evidence).

25 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: BUB1B was added gene: BUB1B was added to Sarcoma soft tissue. Sources: Expert list,Expert Review Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BUB1B were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Mosaic variegated aneuploidy syndrome 1, MONDO:0009759; Mosaic variegated aneuploidy syndrome 1, MIM#257300 Review for gene: BUB1B was set to GREEN