BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: BCOR

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

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; find_uk10k; gilissen_2014_known; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function
Created: 7 Feb 2017, 4:13 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

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

Created: 7 Feb 2017, 4:13 p.m.

Panel version: 0.2

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

BRIDGE

Phenotypes

Microphthalmia, syndromic 2, 300166

OMIM

300485

Clinvar variants

Variants in BCOR

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

BCOR was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source