Callosome

Gene: ZEB1

I don't know

PMID: 37857482 reported nine individuals from 6 unrelated families with anomalies of the corpus callosum. All reported patients had normal schooling and none of them had ID. In five cases, the variant was inherited from a parent with a normal corpus callosum, which illustrated the incomplete penetrance of anomalies of the corpus callosum in individuals with loss of function in ZEB1. Additional symptoms reported in the patients were: two patients had a bicornuate uterus, three had a cardiovascular anomaly and four had macrocephaly at birth.

Created: 2 Nov 2023, 1:39 a.m. | Last Modified: 2 Nov 2023, 1:55 a.m.

Panel Version: 0.507

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
MIM# 609141; Corpus callosum abnormalities

Publications

• PMID: 37857482

I don't know

Two individuals with SNVs and two with CNVs reported with ACC and posterior corneal dystrophy. However note that one of the individuals with SNV also had a large duplication.

Created: 6 Jan 2021, 12:22 a.m. | Last Modified: 6 Jan 2021, 12:22 a.m.

Panel Version: 0.240

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270; Corneal dystrophy, posterior polymorphous, 3, MIM# 609141; Corpus callosum abnormalities

Publications

• 24780443
• 28284480
• 28742278