Characterized by multiple mosaic aneuploidies, growth retardation, micorcephaly, cancer predisposition
Created: 2 Jun 2016, 1:20 p.m.
Mosaic variegated aneuploidy
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
This gene has been classified as Red List (Low Evidence).
Phenotypes for BUB1B were set to Mosaic variegated aneuploidy
Mode of inheritance for BUB1B was changed to BIALLELIC, autosomal or pseudoautosomal
BUB1B was added to Cataractspanel. Sources: UKGTN