Callosome
Gene: BCOR
In a recent review of ~100 affected individuals, male and female, only one had hypoplastic CC. Corpus callosum abnormalities (and other brain abnormalities) are not a prominent/key/common feature of BCOR-associated phenotypes.Created: 5 Aug 2020, 9:12 p.m. | Last Modified: 5 Aug 2020, 9:12 p.m.
Panel Version: 0.175
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, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia
Publications
Gene: bcor has been classified as Red List (Low Evidence).
Phenotypes for gene: BCOR were changed from to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia
Publications for gene: BCOR were set to
Mode of inheritance for gene: BCOR was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Gene: bcor has been classified as Red List (Low Evidence).
gene: BCOR was added gene: BCOR was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BCOR was set to Unknown