Genomics England
GMS Panels
Panels
Genes and Entities

CSDE1

cold shock domain containing E1
OMIM: 191510
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Autism, Global developmental delay, Intellectual disability