Likely inborn error of metabolism - targeted testing not possible
Region: ISCA-37440-Loss2p21 region (includes PREPL and SLC3A1) 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, 1:33 p.m. | Last Modified: 16 Mar 2022, 1:33 p.m.
Panel Version: 2.230
Comment when marking as ready: Coordinates and information checked against the original source panels.Created: 8 Jan 2019, 12:08 p.m.
This region was sourced from ClinGen, transferred from the Mitochondrial disorders panel https://panelapp.genomicsengland.co.uk/panels/112/region/ISCA-37440-Loss/ and Undiagnosed metabolic disorders panel https://panelapp.genomicsengland.co.uk/panels/302/region/ISCA-37440-Loss/.Created: 8 Jan 2019, 12:07 p.m.
Required Overlap Percentage for ISCA-37440-Loss was changed from 80 to 60.
Ellen McDonagh: This region was sourced from C
Region: isca-37440-loss has been classified as Green List (High Evidence).
Region: ISCA-37440-Loss was added Region: ISCA-37440-Loss was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal Publications for Region: ISCA-37440-Loss were set to 18234729; 11524703; 16385448 Phenotypes for Region: ISCA-37440-Loss were set to hyperphagia; lactic acidemia; mild/moderate mental retardation; Hypotonia-cystinuria syndrome (HCS); 606407; failure to thrive; nephrolithiasis; rapid weight gain in late childhood; minor facial dysmorphism; growth hormone deficiency; facial dysmorphism; respiratory chain complex IV deficiency; cystinuria; neonatal seizures; 2p21 deletion syndrome; hypotonia; severe somatic and developmental delay