Early onset or syndromic epilepsy
Gene: RNF2

RNF2 (ring finger protein 2)
EnsemblGeneIds (GRCh38): ENSG00000121481
EnsemblGeneIds (GRCh37): ENSG00000121481
OMIM: 608985, Gene2Phenotype
RNF2 is in 1 panel

1 review

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Promoting to amber as there are 2 cases reported
Created: 8 Jul 2021, 3:17 p.m. | Last Modified: 8 Jul 2021, 3:17 p.m.

Panel Version: 2.389

Not associated with any phenotype in OMIM.

PMID:33864376 (Luo et al 2021) report 2 cases of children with de novo missense variants (p.R70H and p.S82R) in RNF2 and a phenotype of intrauterine growth retardation, severe intellectual disabilities, behavioral problems, seizures, feeding difficulties and dysmorphic features. Seizures started in infancy. Both variants are absent from gnomad. Functional studies in Drosophila showed that the disease-linked variants (p.R70H and p.S82R) behave as LoF alleles.
Sources: Literature
Created: 8 Jul 2021, 3:17 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
epilepsy; intellectual disability; intrauterine growth retardation

Publications

33864376

Created: 8 Jul 2021, 3:17 p.m.

Panel version: 2.388

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Amber
Literature

Phenotypes

epilepsy
intellectual disability
intrauterine growth retardation

OMIM

608985

Clinvar variants

Variants in RNF2

Penetrance

None

Publications

33864376

Panels with this gene

Early onset or syndromic epilepsy

History Filter Activity

8 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: rnf2 has been classified as Amber List (Moderate Evidence).

8 Jul 2021, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: RNF2 was added gene: RNF2 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: RNF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNF2 were set to 33864376 Phenotypes for gene: RNF2 were set to epilepsy; intellectual disability; intrauterine growth retardation Review for gene: RNF2 was set to AMBER

Early onset or syndromic epilepsy Gene: RNF2