Structural eye disease

Gene: BCOR

Green List (high evidence)

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 reported

Created: 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

• 15004558
• 17517692
• 29974297

Mode of pathogenicity
Other - please provide details in the comments

Green List (high evidence)

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 reported

Created: 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

• 15004558
• 17517692
• 29974297

Mode of pathogenicity
Other - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice