Bilateral congenital or childhood onset cataracts
Gene: BCOREnsemblGeneIds (GRCh38): ENSG00000183337
EnsemblGeneIds (GRCh37): ENSG00000183337
OMIM: 300485, Gene2Phenotype
BCOR is in 10 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
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
syndromic microphthalmia-2, 300166
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Is on the Manchester congenital cataracts gene panel and is a confirmed DD gene for Microphthalmia syndromic type 2. X-linked dominant.Created: 28 Apr 2016, 3:24 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; Microphthalmia syndromic type 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
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Microphthalmia syndromic 2
- Microphthalmia syndromic type 2
- syndromic microphthalmia-2, 300166
- OMIM
- 300485
- Clinvar variants
- Variants in BCOR
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for BCOR were set to Microphthalmia syndromic 2; Microphthalmia syndromic type 2; syndromic microphthalmia-2, 300166
Set Mode of Inheritance
Ellen McDonagh (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)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()BCOR was added to Cataractspanel. Sources: UKGTN