Structural eye disease
Region: ISCA-37393-Gain22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain
The required percent of overlap for this region has been changed from 80% to 60% following NHS Genomic Medicine Service approval.Created: 16 Mar 2022, 12:17 p.m. | Last Modified: 16 Mar 2022, 12:17 p.m.
Panel Version: 1.117
Required Overlap Percentage for ISCA-37393-Gain was changed from 80 to 60.
Region: ISCA-37393-Gain was added Region: ISCA-37393-Gain was added to Structural eye disease. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37393-Gain were set to 22890013; 11693792; 22495764 Phenotypes for Region: ISCA-37393-Gain were set to 115470; PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome