Rare genetic inflammatory skin disorders
Gene: RNU12
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 2:49 p.m. | Last Modified: 31 Jan 2023, 2:49 p.m.
Panel Version: 2.3
Comment on list classification: Promoted from red to amber. It could be promoted to green after GMS review if the working group decide that the phenotype is appropriate for this panel. 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.Created: 10 Nov 2021, 4 p.m. | Last Modified: 10 Nov 2021, 4 p.m.
Panel Version: 1.42
Note RNU12 has Ensembl gene ID ENSG00000276027 in GRCh38. It is not listed in OMIM. It encodes a small nuclear RNA.
PMID: 34085356 (Xing et al 2021) report the analysis of 5 patients from 4 unrelated families with clinical features of CDAGS (Craniosynostosis and clavicular hypoplasia; Delayed closure of the fontanelles and cranial defects (and deafness in some patients); Anal anomalies; Genitourinary malformations; and Skin eruption, including porokeratosis). WES and Sanger sequencing was used to identify rare biallelic variants in RNU12. All affected individuals were compound heterozygous, with all 5 patients sharing NC_000022.10:g.43011402C>T, which alters a highly conserved nucleotide. Each individual also carried another variant (4 different variants) in RNU12 thought to disrupt the secondary structure or the Sm binding site of the RNU12 snRNA. All 5 individuals were reported to have skin anomalies; erythematous cutaneous eruption consistent with porokeratosis (1), erythematous skin eruption involving the cheeks, arms, and legs (1), porokeratosis (2 siblings), disseminated dermatosis (1 individual)
Sources: LiteratureCreated: 10 Nov 2021, 3:47 p.m. | Last Modified: 10 Nov 2021, 3:49 p.m.
Panel Version: 1.41
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
porokeratosis; erythematous cutaneous eruption
Publications
Tag gene-checked tag was added to gene: RNU12.
Tag Q4_21_expert_review was removed from gene: RNU12. Tag Q4_21_rating was removed from gene: RNU12. Tag Q4_21_phenotype was removed from gene: RNU12.
Source Expert Review Green was added to RNU12. Source NHS GMS was added to RNU12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_21_phenotype tag was added to gene: RNU12.
Gene: rnu12 has been classified as Amber List (Moderate Evidence).
Tag currently-ngs-unreportable tag was added to gene: RNU12. Tag Q4_21_expert_review tag was added to gene: RNU12. Tag Q4_21_rating tag was added to gene: RNU12.
gene: RNU12 was added gene: RNU12 was added to Rare genetic inflammatory skin disorders. 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 porokeratosis; erythematous cutaneous eruption Review for gene: RNU12 was set to GREEN