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Rare genetic inflammatory skin disorders v2.3 RNU12 Eleanor Williams Tag gene-checked tag was added to gene: RNU12.
Rare genetic inflammatory skin disorders v2.3 RNU12 Arina Puzriakova 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.
Rare genetic inflammatory skin disorders v2.3 RNU12 Arina Puzriakova reviewed gene: RNU12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare genetic inflammatory skin disorders v2.2 RNU12 Arina Puzriakova 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)
Rare genetic inflammatory skin disorders v1.42 RNU12 Eleanor Williams Tag Q4_21_phenotype tag was added to gene: RNU12.
Rare genetic inflammatory skin disorders v1.42 RNU12 Eleanor Williams Classified gene: RNU12 as Amber List (moderate evidence)
Rare genetic inflammatory skin disorders v1.42 RNU12 Eleanor Williams Added comment: 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.
Rare genetic inflammatory skin disorders v1.42 RNU12 Eleanor Williams Gene: rnu12 has been classified as Amber List (Moderate Evidence).
Rare genetic inflammatory skin disorders v1.41 RNU12 Eleanor Williams 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.
Rare genetic inflammatory skin disorders v1.41 RNU12 Eleanor Williams changed review comment from: Note RNU12 has Ensembl gene ID ENSG00000276027 in GRCh38. It is not listed in OMIM. I

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: Literature; to: 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: Literature
Rare genetic inflammatory skin disorders v1.41 RNU12 Eleanor Williams 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
Added comment: Note RNU12 has Ensembl gene ID ENSG00000276027 in GRCh38. It is not listed in OMIM. I

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: Literature