Familial non syndromic congenital heart diseaseRegion: ISCA-37423-Loss
8p23.1 recurrent region (includes GATA4) Loss
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, 1:39 p.m. | Last Modified: 16 Mar 2022, 1:39 p.m.
Panel Version: 1.74
Required Overlap Percentage for ISCA-37423-Loss was changed from 80 to 60.
Region: ISCA-37423-Loss was added Region: ISCA-37423-Loss was added to Familial non syndromic congenital heart disease. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37423-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37423-Loss were set to 23239632; 20969981 Phenotypes for Region: ISCA-37423-Loss were set to prenatal and postnatal growth retardation, low birth weight, mild to moderate intellectual deficit, psychomotor retardation, poor speech, seizures, behavioral problems such as hyperactivity and impulsiveness. Frequent craniofacial abnormalities include microcephaly, high and narrow forehead, broad nasal bridge, epicanthic folds, high arched palate, short neck and low set unusually shaped ears. Furthermore congenital heart defects (atrioventricular, septal defects, pulmonary stenosis), congenital diaphragmatic hernia and in boys cryptorchidism and hypospadias have been frequently reported.; congenital heart defects, microcephaly, psychomotor delay and behavioural problems; hyperactivity, craniofacial abnormalities; 8p23.1 microdeletion syndrome; moderate intellectual disability