Bilateral congenital or childhood onset cataracts
Gene: BCOR
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
syndromic microphthalmia-2, 300166
Variants in this GENE are reported as part of current diagnostic practice
Is on the Manchester congenital cataracts gene panel and is a confirmed DD gene for Microphthalmia syndromic type 2. X-linked dominant.Created: 28 Apr 2016, 3:24 p.m.
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; Microphthalmia syndromic type 2
This gene has been classified as Green List (High Evidence).
Phenotypes for BCOR were set to Microphthalmia syndromic 2; Microphthalmia syndromic type 2; syndromic microphthalmia-2, 300166
Mode of inheritance for BCOR was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
This gene has been classified as Green List (High Evidence).
BCOR was added to Cataractspanel. Sources: UKGTN