Clefting
Gene: BCOR

BCOR (BCL6 corepressor)
EnsemblGeneIds (GRCh38): ENSG00000183337
EnsemblGeneIds (GRCh37): ENSG00000183337
OMIM: 300485, Gene2Phenotype
BCOR is in 10 panels

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Cleft palate and Submucous cleft palate described in the clinical synopsis for Microphthalmia, syndromic 2. Submucous cleft hard palate included as a phenotype in Gene2Phenotype for BCOR Disease: MICROPHTHALMIA SYNDROMIC TYPE 2, which is a confirmed DD gene. PMID: 15957158 - orofacial clefting reported in 61 percent patients with OFCD syndrome. One patient reported in this publication with a BCOR mutation. 4 cases (two the same family) with OFCD syndrome with cleft palate, with BCOR variants described in PMID 15004558.
Created: 31 May 2017, 1:52 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; MCOPS2

Created: 31 May 2017, 1:52 p.m.

Panel version: 0.307

Details

Mode of Inheritance

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

Sources

Expert Review Green

Phenotypes

MICROPHTHALMIA, SYNDROMIC 2
MCOPS2

OMIM

300485

Clinvar variants

Variants in BCOR

Penetrance

Complete

Panels with this gene

History Filter Activity

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

31 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

BCOR was created by ellenmcdonagh