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Intellectual disability syndromic and non-syndromic

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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, 4 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy 97, MIM#619561

Publications

Details

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

History Filter Activity

7 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: celf2 has been classified as Green List (High Evidence).

7 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: celf2 has been classified as Green List (High Evidence).

7 Jan 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CELF2 was added gene: CELF2 was added to Intellectual disability syndromic and non-syndromic. 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