Congenital hypothyroidismRegion: ISCA-37478-Loss
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
Comment on list classification: Demoted from green to amber as adviced by Nadia Schoenmakers (East of England GLH).
Created: 19 Jun 2019, 8:37 a.m.
Region: isca-37478-loss has been classified as Amber List (Moderate Evidence).
Region: ISCA-37478-Loss was added Region: ISCA-37478-Loss was added to Congenital hypothyroidism or thyroid agenesis. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37478-Loss were set to 22045295; 7611294 Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830