Activity
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12 actions
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| 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. |
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| 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. |
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| 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 |
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