Glaucoma (developmental)
Gene: BCOR
DB According to Ragge et al. 2018 BCOR variants have been associated with OFCD/X-linked recessive microphthalmia in 58 unrelated families. OFCD variants are loss of function, X-linked recessive microphthalmia missense or splice, effect on function not reportedCreated: 19 Jun 2019, 3:32 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, 300166
Publications
Mode of pathogenicity
Other - please provide details in the comments
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB According to Ragge et al. 2018 BCOR variants have been associated with OFCD/X-linked recessive microphthalmia in 58 unrelated families. OFCD variants are loss of function, X-linked recessive microphthalmia missense or splice, effect on function not reportedCreated: 17 Apr 2019, 3:30 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, 300166
Publications
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
BCOR was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory