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Intellectual disability

Gene: CELF2

Amber List (moderate evidence)

CELF2 (CUGBP Elav-like family member 2)
EnsemblGeneIds (GRCh38): ENSG00000048740
EnsemblGeneIds (GRCh37): ENSG00000048740
OMIM: 602538, Gene2Phenotype
CELF2 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

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

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Developmental and epileptic encephalopathy 97, OMIM:619561
Tags
Q2_22_rating Q2_22_NHS_review
OMIM
602538
Clinvar variants
Variants in CELF2
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

18 May 2022, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: celf2 has been classified as Amber List (Moderate Evidence).

18 May 2022, Gel status: 0

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_22_rating tag was added to gene: CELF2. Tag Q2_22_NHS_review tag was added to gene: CELF2.

18 May 2022, Gel status: 0

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: CELF2 were set to 34107259; 33131106

18 May 2022, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CELF2 were changed from Developmental delay; epileptic encephalopathy to Developmental and epileptic encephalopathy 97, OMIM:619561

10 May 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Julia Baptista (Faculty of Health, University of Plymouth)

gene: CELF2 was added gene: CELF2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: CELF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CELF2 were set to 34107259; 33131106 Phenotypes for gene: CELF2 were set to Developmental delay; epileptic encephalopathy Mode of pathogenicity for gene: CELF2 was set to Other Review for gene: CELF2 was set to GREEN