Early onset or syndromic epilepsy
Gene: CELF2
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
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
Phenotypes
DEE
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: LiteratureCreated: 7 Jan 2021, 10 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental and epileptic encephalopathy
Publications
Tag Q2_22_rating was removed from gene: CELF2. Tag Q2_22_NHS_review was removed from gene: CELF2.
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)
Gene: celf2 has been classified as Amber List (Moderate Evidence).
Tag Q2_22_rating tag was added to gene: CELF2. Tag Q2_22_NHS_review tag was added to gene: CELF2.
Publications for gene: CELF2 were set to 33131106
Phenotypes for gene: CELF2 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 97, OMIM:619561
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