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  3. BUB1B
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Embryonal tumour of possible germline origin

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 15 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

BUB1B has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 26 Jan 2026, 6:10 p.m. | Last Modified: 26 Jan 2026, 6:10 p.m.
Panel Version: 0.7
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #257300) and the OMIM record was last accessed on 30 December 2025.
Created: 30 Dec 2025, 11:14 a.m. | Last Modified: 30 Dec 2025, 11:14 a.m.
Panel Version: 0.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
mosaic variegated aneuploidy syndrome 1, MONDO:0009759; Mosaic variegated aneuploidy syndrome 1, OMIM:257300

Created: 30 Dec 2025, 11:14 a.m.
Last Modified: 30 Dec 2025, 11:14 a.m.
Panel version: 0.7

History Filter Activity

30 Dec 2025, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: BUB1B was added gene: BUB1B was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1, OMIM:257300; mosaic variegated aneuploidy syndrome 1, MONDO:0009759