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Fetal anomalies

Gene: CSDE1

Green List (high evidence)
CSDE1 (cold shock domain containing E1)
EnsemblGeneIds (GRCh38): ENSG00000009307
EnsemblGeneIds (GRCh37): ENSG00000009307
OMIM: 191510, Gene2Phenotype
CSDE1 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Natalie Chandler (North Thames GLH)

Green List (high evidence)

Green in ID panel UK, PMID 31579823 18 cases, 7/14 patients with MRI had abnormalities cysts, thin CC, prominent ventricles. 6/14 macrocephaly PMID 34519148 1 case de novo stop, hypoplasia of corpus callosum and mildly reduced brain volume on brain magnetic resonance imaging [GOSH case: Fetal phenotype: MRI at 27+4 weeks showed bilateral ventriculomegaly and periventricular cysts. Baby: mesomelia, macrocephaly, frontal bossing, scaphocephaly, poor suck and dysmorphic features]
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • neurodevelopmental disorder
Tags
gene-checked
OMIM
191510
Clinvar variants
Variants in CSDE1
Penetrance
None
Panels with this gene

History Filter Activity

19 Mar 2026, Gel status: 3

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag gene-checked tag was added to gene: CSDE1.

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes neurodevelopmental disorder for gene: CSDE1

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: CSDE1 was added gene: CSDE1 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: CSDE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted