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Fetal anomalies

Gene: BUB1

Amber List (moderate evidence)
BUB1 (BUB1 mitotic checkpoint serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000169679
EnsemblGeneIds (GRCh37): ENSG00000169679
OMIM: 602452, Gene2Phenotype
BUB1 is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Natalie Chandler (North Thames GLH)

I don't know

Green in microephaly panel, amber in aus panels. Difference due to a case in CVA via diagnostic discovery meaning 3 affected and animal model pushes to green. CVA case: GDD, ID, microcephaly, short stature, and cafe-au-lait spots; PMID 35044816 1st case Enlarged nuchal translucency, IUGR, Pierre-Robin sequence, OFC -2.8/9 SD at birth, length -3,2.8 SD at birth, ASD x2, cMRI at age 1 year: symmetrical supratentorial cortical atrophy, enlarged ventricles in one case.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 30, primary, autosomal recessive, OMIM:620183

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Microcephaly 30, primary, autosomal recessive, OMIM:620183
OMIM
602452
Clinvar variants
Variants in BUB1
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Microcephaly 30, primary, autosomal recessive, OMIM:620183 for gene: BUB1

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: BUB1 was added gene: BUB1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: BUB1 was set to BIALLELIC, autosomal or pseudoautosomal