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Early onset or syndromic epilepsy v8.187 RNU2-2P Achchuthan Shanmugasundram Publications for gene: RNU2-2P were set to 40210679; 40442284; 41912933
Early onset or syndromic epilepsy v8.177 RNU2-2P Ida Ertmanska edited their review of gene: RNU2-2P: Added comment: Comment on mode of inheritance: There are numerous individuals reported with both mono- and bi-allelic variants causing a neurodevelopmental disorder including early-onset epilepsy. Hence MOI should be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next update.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v8.177 RNU2-2P Ida Ertmanska Tag Q2_26_MOI tag was added to gene: RNU2-2P.
Early onset or syndromic epilepsy v8.177 RNU2-2P Ida Ertmanska Publications for gene: RNU2-2P were set to 40210679; 40442284
Early onset or syndromic epilepsy v8.176 RNU2-2P Ida Ertmanska reviewed gene: RNU2-2P: Rating: GREEN; Mode of pathogenicity: None; Publications: 41912933; Phenotypes: Developmental and epileptic encephalopathy 119, OMIM:621304; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Early onset or syndromic epilepsy v8.159 RNU2-2P Arina Puzriakova Phenotypes for gene: RNU2-2P were changed from neurodevelopmental disorder, MONDO:0700092; epilepsy, MONDO:0005027 to Developmental and epileptic encephalopathy 119, OMIM:621304
Early onset or syndromic epilepsy v8.139 RNU2-2P Arina Puzriakova Tag dd_review was removed from gene: RNU2-2P.
Tag Q2_25_ promote_green was removed from gene: RNU2-2P.
Early onset or syndromic epilepsy v8.134 RNU2-2P Achchuthan Shanmugasundram commented on gene: RNU2-2P: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v8.134 RNU2-2P Arina Puzriakova Source NHS GMS was added to RNU2-2P.
Source Expert Review Green was added to RNU2-2P.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Early onset or syndromic epilepsy v8.13 RNU2-2P Arina Puzriakova Publications for gene: RNU2-2P were set to 40210679
Early onset or syndromic epilepsy v7.90 RNU2-2P Achchuthan Shanmugasundram Classified gene: RNU2-2P as Amber List (moderate evidence)
Early onset or syndromic epilepsy v7.90 RNU2-2P Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of this gene with epilepsy. Hence, this gene can be promoted to green rating on the next GMS update.
Early onset or syndromic epilepsy v7.90 RNU2-2P Achchuthan Shanmugasundram Gene: rnu2-2p has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v7.89 RNU2-2P Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: RNU2-2P.
Early onset or syndromic epilepsy v7.89 RNU2-2P Achchuthan Shanmugasundram commented on gene: RNU2-2P: The "new-gene-name" tag has been added as the official HGNC symbol for RNU2-2P is RNU2-2.

In addition, "locus-type-rna-small-nuclear" tag has been added to highlight the biotype for this gene.
Early onset or syndromic epilepsy v7.89 RNU2-2P Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: RNU2-2P.
Tag locus-type-rna-small-nuclear tag was added to gene: RNU2-2P.
Tag dd_review tag was added to gene: RNU2-2P.
Early onset or syndromic epilepsy v7.89 RNU2-2P Achchuthan Shanmugasundram Phenotypes for gene: RNU2-2P were changed from to neurodevelopmental disorder, MONDO:0700092; epilepsy, MONDO:0005027
Early onset or syndromic epilepsy v7.88 RNU2-2P Achchuthan Shanmugasundram Publications for gene: RNU2-2P were set to
Early onset or syndromic epilepsy v7.87 RNU2-2P Achchuthan Shanmugasundram Mode of inheritance for gene: RNU2-2P was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v7.86 RNU2-2P Achchuthan Shanmugasundram reviewed gene: RNU2-2P: Rating: GREEN; Mode of pathogenicity: None; Publications: 40210679; Phenotypes: neurodevelopmental disorder, MONDO:0700092, epilepsy, MONDO:0005027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v6.4 RNU2-2P Eleanor Williams gene: RNU2-2P was added
gene: RNU2-2P was added to Early onset or syndromic epilepsy. Sources: Literature
Mode of inheritance for gene: RNU2-2P was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: RNU2-2P was set to RED
Added comment: PRE-PRINT article https://doi.org/10.1101/2024.09.03.24312863

Greene et al 2024 - report 15 cases in which recurrent germline variants in RNU2-2P are found in patients with a severe neurodevelopmental disorder.

9 cases were from the 100,000 Genomes Project, all of which were annotated with Intellectual disability and displayed severe epilepsy usually from the first few months of life. Among these 9 two recurrent variants were found; n.4G>A and n.35A>G. Trio sequencing of 4/5 of the cases with n.4G>A and 3/4 of the cases with n.35A>G showed that the variants were de novo in all cases.

A variant with a different alternate allele at nucleotide 35, n.35A>T, was identified in
8 unaffected participants but further analysis suggests that this is a recurring somatic mosaic
variant.

A further 6 cases were identified in additional datasets of patients with neurodevelopmental abnormalities with de novo variants and no unaffected carriers of either variant; 4 cases had n.4G>A, 1 case had n.35A>G and 1 case had a different alternate allele, n.35A>C.

RNU2-2P is currently annotated as a pseudogene in Ensembl, but there is evidence that it is a transcribed gene from PMID.: 35288589
Sources: Literature