Structural eye disease
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
Source NHS GMS was added to BCOR. Mode of pathogenicity for gene BCOR was changed from to Other - please provide details in the comments Added phenotypes Microphthalmia, syndromic 2, 300166 for gene: BCOR Publications for gene BCOR were changed from to 29974297; 15004558; 17517692
gene: BCOR was added gene: BCOR was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: BCOR was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: BCOR were set to Microphthalmia, syndromic 2, 300166