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Rare syndromic craniosynostosis or isolated multisuture synostosis v3.4 RNU12 Eleanor Williams Tag gene-checked tag was added to gene: RNU12.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 RNU12 Eleanor Williams Tag Q3_21_rating was removed from gene: RNU12.
Tag Q3_21_expert_review was removed from gene: RNU12.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 RNU12 Eleanor Williams commented on gene: RNU12: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. It has been agreed that this gene should remain amber at this time.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.50 RNU12 Eleanor Williams Classified gene: RNU12 as Amber List (moderate evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.50 RNU12 Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber. It could be promoted to green after GMS review as there are 3 unrelated cases with a craniosynostosis phenotype. However, variants in this gene would not currently be reported as it is not a protein coding gene. An Ensembl ID also needs to be added before it is promoted to green.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.50 RNU12 Eleanor Williams Gene: rnu12 has been classified as Amber List (Moderate Evidence).
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.49 RNU12 Eleanor Williams Tag Q3_21_rating tag was added to gene: RNU12.
Tag Q3_21_expert_review tag was added to gene: RNU12.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.49 RNU12 Eleanor Williams Tag currently-ngs-unreportable tag was added to gene: RNU12.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.49 RNU12 Eleanor Williams Phenotypes for gene: RNU12 were changed from CDAGS syndrome MIM#603116; Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations to CDAGS syndrome, OMIM:603116; craniosynostosis-anal anomalies-porokeratosis syndrome, MONDO:001128
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.48 RNU12 Eleanor Williams edited their review of gene: RNU12: Changed phenotypes to: CDAGS syndrome, OMIM:603116, craniosynostosis-anal anomalies-porokeratosis syndrome, MONDO:0011287
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.48 RNU12 Eleanor Williams reviewed gene: RNU12: Rating: ; Mode of pathogenicity: None; Publications: 34085356; Phenotypes: CDAGS syndrome, OMIM:603116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.23 RNU12 Zornitza Stark gene: RNU12 was added
gene: RNU12 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU12 were set to 34085356
Phenotypes for gene: RNU12 were set to CDAGS syndrome MIM#603116; Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations
Review for gene: RNU12 was set to GREEN
Added comment: 5 CDAGS syndrome families with biallelic variants all including NC_000022.10:g.43011402C>T and another variant on the second allele. Whole transcriptome sequencing analysis of patient lymphoblastoid cells identified differentially expressed genes, and differential alternative splicing analysis indicated there was an enrichment of alternative splicing events. Craniosynostosis is a major feature of the condition.
Sources: Literature