Cataracts

Gene: BUB1B

Red List (low evidence)

BUB1B (BUB1 mitotic checkpoint serine/threonine kinase B)
EnsemblGeneIds (GRCh38): ENSG00000156970
EnsemblGeneIds (GRCh37): ENSG00000156970
OMIM: 602860, Gene2Phenotype
BUB1B is in 11 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Characterized by multiple mosaic aneuploidies, growth retardation, micorcephaly, cancer predisposition
Created: 2 Jun 2016, 1:20 p.m.

Phenotypes
Mosaic variegated aneuploidy

Ellen McDonagh (Genomics England Curator)

I don't know

Comment when marking as ready: Not suitable to be green on the cataract panel.
Created: 2 Jun 2016, 1:25 p.m.
Not on the Manchester congenital cataracts gene panel. It is a confirmed DD gene for Mosaic variegated aneuploidy syndrome 1 (which includes cataract as a phenotype). Multiple variants reported in OMIM.
Created: 28 Apr 2016, 3:28 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Mosaic variegated aneuploidy
OMIM
602860
Clinvar variants
Variants in BUB1B
Penetrance
Complete
Panels with this gene

History Filter Activity

2 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 Jun 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for BUB1B were set to Mosaic variegated aneuploidy

2 Jun 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for BUB1B was changed to BIALLELIC, autosomal or pseudoautosomal

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

BUB1B was added to Cataractspanel. Sources: UKGTN