1. Genes and Genomic Entities
  2. CSDE1

CSDE1

cold shock domain containing E1
OMIM: 191510, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green CSDE1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 7.7
Latest signed off version: v7.0 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • neurodevelopmental disorder
Tags
  • gene-checked
Red CSDE1 in DDG2P


Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • CSDE1-associated intellectual disability and autism
    Tags
    • gene-checked
    Green CSDE1 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Autism
    • Global developmental delay
    • Intellectual disability
    Tags
    • gene-checked