Genomics England
GMS Panels
Panels
Genes and Entities

BCOR

BCL6 corepressor
OMIM: 300485
PanelMode of inheritanceDetails
6 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 4.0
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, syndromic microphthalmia-2, 300166
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.102
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, MCOPS2
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
MICROPHTHALMIA SYNDROMIC TYPE 2 300166
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
MICROPHTHALMIA SYNDROMIC TYPE 2
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
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, MICROPHTHALMIA SYNDROMIC TYPE 2 (MCOPS2)
Green
in Structural eye disease
R-numbers: R36
Signed-off version 3.0
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