Intellectual disability
Gene: CELF2

CELF2 (CUGBP Elav-like family member 2)
EnsemblGeneIds (GRCh38): ENSG00000048740
EnsemblGeneIds (GRCh37): ENSG00000048740
OMIM: 602538, Gene2Phenotype
CELF2 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: 30 Jan 2023, 5:50 p.m. | Last Modified: 30 Jan 2023, 5:50 p.m.

Panel Version: 4.53

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - at least 11 unrelated individuals harbouring heterozygous variants (10 de novo) in this gene. DD/ID observed in all cases, and although in some this was subsequent to onset of seizures, at least 2 individuals showed no epilepsy and therefore inclusion of CELF2 on this panel would be of value.
Created: 18 May 2022, 2:09 p.m. | Last Modified: 18 May 2022, 2:09 p.m.

Panel Version: 3.1571

Created: 18 May 2022, 2:09 p.m.
Last Modified: 18 May 2022, 2:09 p.m.
Panel version: 4.53

Julia Baptista (Faculty of Health, University of Plymouth)

Green List (high evidence)

De novo missense variants in six individuals (PMID:34107259). The variants cluster on the C‐terminus, a nuclear localization sign. Phenotypic findings include global developmental delay with moderate to severe impairment of speech and language capacities, infantile spasms, stereotypic movements and/or aggressive behaviors, and one individual was diagnosed with ASD.

A previous publication (PMID: 33131106) reported five unrelated individuals (four de novo). Two missense variants, one frameshift predicted to escape NMD and one splice site variant, c.272‐1G>C were identified; these variants, except the splicing, clustered on the C‐terminus.
Sources: Literature
Created: 10 May 2022, 5:17 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental delay; epileptic encephalopathy

Publications

Mode of pathogenicity
Other

Created: 10 May 2022, 5:17 p.m.

Panel version: 3.1568

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

Developmental and epileptic encephalopathy 97, OMIM:619561

OMIM

602538

Clinvar variants

Variants in CELF2

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene