Familial non syndromic congenital heart disease
Region: ISCA-37434-Loss1p36 terminal region (includes GABRD) 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, 1:35 p.m. | Last Modified: 16 Mar 2022, 1:35 p.m.
Panel Version: 1.74
Required Overlap Percentage for ISCA-37434-Loss was changed from 80 to 60.
Region: ISCA-37434-Loss was added Region: ISCA-37434-Loss was added to Familial non syndromic congenital heart disease. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37434-Loss were set to 17918734; 22766398; 18245432 Phenotypes for Region: ISCA-37434-Loss were set to posteriorly rotated, low-set, abnormal ears; brachycephaly; epicanthus; heart defects; pointed chin; deep-set eyes; microcephaly; hypotonia; seizures; poor/absent speech; central nervous system anomalies; large anterior fontanels; microbrachycephaly; mental retardation; growth impairment; large, late-closing anterior fontanel; flat nose; nasal bridge; developmental delay; hearing impairment; distinct dysmorphic features; 1p36 deletion syndrome; 607872