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Early onset or syndromic epilepsy

Gene: CELF2

Green List (high evidence)

CELF2 (CUGBP Elav-like family member 2)
EnsemblGeneIds (GRCh38): ENSG00000048740
EnsemblGeneIds (GRCh37): ENSG00000048740
OMIM: 602538, Gene2Phenotype
CELF2 is in 3 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 9:39 a.m. | Last Modified: 1 Feb 2023, 9:39 a.m.
Panel Version: 3.29
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. Seizures observed in 9/11 cases.
Created: 18 May 2022, 2:01 p.m. | Last Modified: 18 May 2022, 2:01 p.m.
Panel Version: 2.522

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.
Created: 9 May 2022, 4:37 p.m. | Last Modified: 9 May 2022, 4:37 p.m.
Panel Version: 2.519

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental delay; epileptic encephalopathy

Publications

Variants in this GENE are reported as part of current diagnostic practice

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

Phenotypes
DEE

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Five unrelated individuals reported. Four with de novo variants, and one inherited from a mosaic mother. Notably, all identified variants, except for c.272‐1G>C, were clustered within 20 amino acid residues of the C‐terminus, which might be a nuclear localization signal.
Sources: Literature
Created: 7 Jan 2021, 10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy

Publications

Details

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

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_22_rating was removed from gene: CELF2. Tag Q2_22_NHS_review was removed from gene: CELF2.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to CELF2. Source NHS GMS was added to CELF2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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 33131106

18 May 2022, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

7 Jan 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: CELF2 was added gene: CELF2 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: CELF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CELF2 were set to 33131106 Phenotypes for gene: CELF2 were set to Developmental and epileptic encephalopathy Review for gene: CELF2 was set to GREEN