Genomics England
GMS Panels
Panels
Genes and Entities

ISCA-37425-Loss

5q35 recurrent (Sotos syndrome) region (includes NSD1) Loss
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
macrocephaly, overgrowth and advanced bone age, colpocephaly, Sotos syndrome, macrocephaly, 117550, rapid growth, acromegalic features, and a nonprogressive cerebral disorder with mental retardation. High-arched palate and prominent jaw