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Clefting disorders

Gene: BCOR

Green List (high evidence)

BCOR (BCL6 corepressor)
EnsemblGeneIds (GRCh38): ENSG00000183337
EnsemblGeneIds (GRCh37): ENSG00000183337
OMIM: 300485, Gene2Phenotype
BCOR is in 8 panels

0 reviews

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
  • MCOPS2
  • MICROPHTHALMIA, SYNDROMIC 2
OMIM
300485
Clinvar variants
Variants in BCOR
Penetrance
None
Panels with this gene

History Filter Activity

16 Sep 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BCOR was added gene: BCOR was added to Clefting_GEL. 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 MCOPS2; MICROPHTHALMIA, SYNDROMIC 2