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  2. Anophthalmia or microphthalmia
  3. BCOR
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Anophthalmia or microphthalmia

Gene: BCOR

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

2 reviews

David FitzPatrick (University of Edinburgh)

Green List (high evidence)

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

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

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Known expert review
Created: 10 May 2016, 11:40 a.m.
Created: 10 May 2016, 11:40 a.m.

Panel version: 0.3

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
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Microphthalmia, syndromic 2, 300166
OMIM
300485
Clinvar variants
Variants in BCOR
Penetrance
Complete
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 2

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

10 May 2016, Gel status: 2

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for BCOR was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

10 May 2016, Gel status: 2

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for BCOR was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

BCOR was added to Anophthalmia/microphthalmiapanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

BCOR was added to Anophthalmia/microphthalmiapanel. Sources: Emory Genetics Laboratory