Cataract

Gene: BCOR

Green List (high evidence)

Null variants typically observed in females, and missense variants in males, but the underlying mechanism is thought to be LOF, and complete LOF likely lethal in males. Although the condition has historically been referred to as oculofaciocardiodental (OFCD) syndrome in females, and Lenz microphthalmia in males, both males and females have ocular, cardiac, and skeletal abnormalities as well as craniofacial dysmrophisms. ID is a variable feature, present in around 10% of females and 50% of males, can be mild.

Created: 5 Aug 2020, 9 p.m. | Last Modified: 5 Aug 2020, 9 p.m.

Panel Version: 0.222

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia

Publications

• 29974297