BCOR

BCL6 corepressor
OMIM: 300485, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green BCOR in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 1.43	review	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 Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 2, MIM# 300166 Oculofaciocardiodental syndrome Lenz microphthalmia
Green BCOR in Cataract Level 2: Ophthalmological disorders Version 0.373	review	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 Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 2, MIM# 300166 Oculofaciocardiodental syndrome Lenz microphthalmia
Green BCOR in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.430	review	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 Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 2, MIM# 300166 Oculofaciocardiodental syndrome Lenz microphthalmia
Green BCOR in Mendeliome Version 1.2374	review	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 Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 2, MIM# 300166 Oculofaciocardiodental syndrome Lenz microphthalmia
Red BCOR in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.540	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 2, MIM# 300166 Oculofaciocardiodental syndrome Lenz microphthalmia
Green BCOR in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	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 Genetic Health Queensland Phenotypes Microphthalmia, syndromic 2, MIM# 300166 Oculofaciocardiodental syndrome Lenz microphthalmia
Green BCOR in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	review	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
Green BCOR in Fetal anomalies Version 1.314	review	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 Genomics England PanelApp Genetic Health Queensland Phenotypes Microphthalmia, syndromic 2, MIM# 300166 Oculofaciocardiodental syndrome Lenz microphthalmia